Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: AKAP9: 2295T>A; Asp765Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

Human Mutation

Smith, Erica D ED; Radtke, Kelly K; Rossi, Mari M; Shinde, Deepali N DN; Darabi, Sourat S; El-Khechen, Dima D; Powis, Zöe Z; Helbig, Katherine K; Waller, Kendra K; Grange, Dorothy K DK; Tang, Sha S; Farwell Hagman, Kelly D KD

Publication Date: 2017-05

Variant appearance in text: AKAP9: 2295T>A; D765E

PubMed Link: 28106320

Variant Present in the following documents:

• HUMU-38-600-s001.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: AKAP9: D765E

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.

Plos One

Shigemizu, Daichi D; Aiba, Takeshi T; Nakagawa, Hidewaki H; Ozaki, Kouichi K; Miya, Fuyuki F; Satake, Wataru W; Toda, Tatsushi T; Miyamoto, Yoshihiro Y; Fujimoto, Akihiro A; Suzuki, Yutaka Y; Kubo, Michiaki M; Tsunoda, Tatsuhiko T; Shimizu, Wataru W; Tanaka, Toshihiro T

Publication Date: 2015

Variant appearance in text: AKAP9: 2295T>A; D765E

PubMed Link: 26132555

Variant Present in the following documents:

• Main text
• pone.0130329.pdf

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